Variant report

Variant	rs4918188
Chromosome Location	chr10:96033766-96033767
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96033577..96035781-chr10:96037823..96040111,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10786156	0.83[GIH][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap];0.83[AFR][1000 genomes]
rs11187830	0.96[CEU][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12240281	0.86[EUR][1000 genomes]
rs12258052	0.82[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1408820	0.85[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs17109869	0.96[CEU][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1830890	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1858610	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969867	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2274224	0.84[AFR][1000 genomes]
rs2274225	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35443777	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740362	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4917450	1.00[MEX][hapmap]
rs4918182	0.86[EUR][1000 genomes]
rs4918184	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55753709	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61886339	0.87[EUR][1000 genomes]
rs7072099	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7072574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7075045	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7081879	0.83[EUR][1000 genomes]
rs7083628	0.86[EUR][1000 genomes]
rs7919066	1.00[MEX][hapmap]
rs7919320	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036676	chr10:95851376-96103876	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4918188	NOC3L	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95974200-96034000	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:95985800-96033800	Weak transcription	Left Ventricle	heart
3	chr10:95994600-96045400	Weak transcription	Lung	lung
4	chr10:95995800-96051800	Weak transcription	Fetal Kidney	kidney
5	chr10:96004400-96034000	Weak transcription	Fetal Brain Male	brain
6	chr10:96013200-96034000	Weak transcription	Adipose Nuclei	Adipose
7	chr10:96013600-96034000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:96014000-96034000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:96015000-96070200	Weak transcription	Fetal Brain Female	brain
10	chr10:96020800-96039800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:96023600-96038400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr10:96024000-96033800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr10:96025600-96035000	Strong transcription	Fetal Intestine Large	intestine
14	chr10:96026000-96034800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr10:96026600-96033800	Weak transcription	Right Ventricle	heart
16	chr10:96027400-96033800	Strong transcription	Fetal Stomach	stomach
17	chr10:96028000-96034800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:96028400-96033800	Weak transcription	A549	lung
19	chr10:96028800-96041200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:96029200-96034000	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:96030400-96037000	Weak transcription	Gastric	stomach
22	chr10:96030600-96033800	Weak transcription	Pancreas	Pancrea
23	chr10:96031000-96033800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:96031000-96033800	Weak transcription	Ovary	ovary
25	chr10:96031000-96034200	Weak transcription	Osteobl	bone
26	chr10:96031000-96037000	Weak transcription	Colonic Mucosa	Colon
27	chr10:96031200-96034200	Weak transcription	Aorta	Aorta
28	chr10:96031600-96039200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:96031800-96034000	Weak transcription	Fetal Lung	lung
30	chr10:96031800-96038000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:96031800-96048000	Weak transcription	Brain Germinal Matrix	brain
32	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
33	chr10:96032000-96033800	Strong transcription	Fetal Muscle Leg	muscle
34	chr10:96032000-96033800	Weak transcription	Placenta	Placenta
35	chr10:96032200-96033800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:96032600-96037400	Strong transcription	Fetal Intestine Small	intestine
37	chr10:96032600-96037800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr10:96033200-96035800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:96033400-96034000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr10:96033600-96034600	Enhancers	Fetal Heart	heart
41	chr10:96033600-96035200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr10:96033600-96035400	Enhancers	Stomach Smooth Muscle	stomach
43	chr10:96033600-96036000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr10:96033600-96036000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:96033600-96036000	Enhancers	Liver	Liver
46	chr10:96033600-96036200	Enhancers	HSMMtube	muscle

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